Angleman Syndrome and Adulthood

Angelman syndrome is a genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities, epilepsy, short attention span, hyperactivity, hand flapping and speech impairments. It is a rare disorder that affects 1 in 12,000 to 20,000 a year. there are less than 200,000 cases a year and affects all ethnicities and sexes equally.

Typically, there is a severe developmental delay and learning disability as well as near absence of speech and ataxia including ataxia including jerky movements of the arms and legs. People with Angelman syndrome generally have a happy demeanor and an inappropriate laughter.

Life expectancy appears to be normal. As people with Angelman syndrome age, scoliosis tends to worsen and for many people born with epilepsy, there are cases where seizures stop, however, they tend to return as the person gets older.

 

Health Issues in Adults

Several research studies show a number of health complications for adults with Angelman syndrome. Less than half of people with Angelman syndrome also have a diagnosis of seizures. Seizures begin in early childhood and can continue through adulthood. Poor sleep in adults continue to be a challenge. This includes difficulty falling asleep, frequent waking up during the night and waking up too early. Other issues include, constipation, scoliosis, self-injurious behavior and obesity.

Due to cognitive and medical needs, a person with Angelman syndrome will always require support. Most people with Angelman syndrome attend a day habilitation setting. Support should include

  • staff trained on identifying seizures and providing assistance.
  • programs that support the person’s short attention span
  • evaluation for a communication device or a means to communicate.
  • support for self-injurious behavior.

Updated 2/15/24.

Early Signs of Rett Syndrome

Rett syndrome is a neurodevelopmental disorder occurring mostly in females in which the child exhibits reduced muscle tone, autistic-like behaviors, stereotyped hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children and is the most genetic causes of severe intellectual disability in females. Due to similarities to autism and cerebral palsy, it is often misdiagnosed.

Signs similar to autism include outburst, eye contact avoidance, lack of social reciprocity, sensory issues and loss of speech. Signs of Rett syndrome similar to cerebral palsy include short stature, difficulty with walking, gait movement difficulties and delayed ability to walk.

Typically, children born with Rett syndrome develop normally until the age of 6 and 18 months and reach typical development milestones including eye contact, rolling over and grasping objects. As children grow, motor development begins to slow such as walking and muscle movement. The first signs is usually the loss of muscle tone where the child’s arms and legs appear “floppy.”

Other early signs include:

  • Loss of communication abilities
  • Unusual eye movement
  • Breathing problems
  • Irritable and crying often
  • Intellectual disability
  • Seizures
  • Scoliosis
  • Sleep disturbance
  • Irregular heartbeat
More Resources on Rett Syndrome

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